Sudden death: improving its diagnosis and treatment

María Carmo-Fonseca

Instituto de Medicina Molecular de la Universidad de Lisboa, Portugal

Hypertrophic myocardiopathy is the most common hereditary cardiovascular disease and the main cause of sudden death, above all in young athletes. Genetic diagnostic tests are unable to identify from 30% to 60% of people with mutations.

This event has recently been given orphan disease status as it is a serious, highly debilitating chronic pathology that threatens the life of those who suffer it and affects few people. In the last five years, only three drugs have been developed, but just one of these has proved relatively effective.

The goal of the project is to improve genetic diagnosis and prevention for individuals predisposed to developing hypertrophic myocardiopathy. In addition, the researchers will develop a concept test to improve current therapies, which are directed more towards invasively treating the symptoms than to the genetic causes.

• Joaquim Cabral, Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal

• Dulce Brito, Associação para Investigação e Desenvolvimento da Faculdade de Medicina, Portugal

RNA mis-splicing in hypertrophic cardiomyopathy: opportunities for diagnosis and therapy (spliceHCM)

986.964 €